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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=55",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=53",
"results": [
{
"created": "2026-01-22T14:58:26.824269+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:58:14.493086+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:58.706246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOC as ready",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:58.696548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: boc has been classified as Red List (Low Evidence).",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:52.541249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:57:15.383592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:32:35.101668+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.399",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene OSR2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T14:32:34.893148+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.399",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OSR2 was added\ngene: OSR2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSR2 were set to 41424369; 21262216\nPhenotypes for gene: OSR2 were set to MONDO:0005497",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T14:30:41.075387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4114",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OSR2 was added\ngene: OSR2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSR2 were set to 41424369; 21262216\nPhenotypes for gene: OSR2 were set to MONDO:0005497\nReview for gene: OSR2 was set to GREEN\nAdded comment: 41424369 reports six unrelated families (13 affected individuals) presenting with radioulnar synostosis, distal ulna hypoplasia, joint stiffness, ear deformities, scoliosis and short stature. \r\n\r\nVariant: two nonsense, two missense at the same codon, and a 383‑kb deletion were reported. The variants segregate in an autosomal‑dominant pattern with incomplete penetrance and was identified de novo in one family\r\n\r\nFunctional assays (Western blot, immunofluorescence) demonstrate loss‑of‑function. \r\n\r\n21262216 - Reports Osr2 knockout mice that recapitulate the human phenotype of joint fusion, supporting the loss-of-function mechanism of the disease. \nSources: Literature",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T13:03:39.590635+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene BOC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T13:03:39.515409+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOC was added\ngene: BOC was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BOC were set to 40464334; 28677295",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T13:00:44.190918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOC was added\ngene: BOC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BOC were set to 40464334; 28677295\nReview for gene: BOC was set to RED\nAdded comment: BOC encodes a cell‑surface co‑receptor for Sonic Hedgehog signaling. PMID 40464334 reports 4 unrelated families with heterozygous BOC variants causing non‑syndromic orofacial clefts (cleft palate and microform cleft lip); three variants are de novo and one segregates dominantly, and zebrafish and cell‑based assays confirm hypomorphic activity. PMID 28677295 and PMID 28915250 describe BOC missense variants in holoprosencephaly and Gorlin syndrome, respectively, but present them as modifier alleles without segregation or functional validation.\r\n\r\nHowever, all reported variants have relatively high gnomAD frequencies, raising the possibility that these are susceptibility alleles. \nSources: Literature",
"entity_name": "BOC",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:53.038508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXDND1 as Green List (high evidence)",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:53.027950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Green List (High Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:56:35.423355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Axdnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:37.437415+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXDND1 as Green List (high evidence)",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:37.427650+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axdnd1 has been classified as Green List (High Evidence).",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:53:23.500336+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Axdnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255",
"entity_name": "AXDND1",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:50:51.846380+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.240",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene UNC13C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T12:50:51.687464+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.240",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: UNC13C was added\ngene: UNC13C was added to Autism. Sources: Literature\nMode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC13C were set to 41399760\nPhenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:49:41.337881+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.615",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene UNC13C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T12:49:40.926023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.615",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: UNC13C was added\ngene: UNC13C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC13C were set to 41399760\nPhenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:48:45.653696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4111",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: UNC13C was added\ngene: UNC13C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC13C were set to 41399760\nPhenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: UNC13C was set to AMBER\nAdded comment: PMID 41399760 reports 11 individuals from 9 unrelated families with biallelic nonsense and missense UNC13C variants presenting with a severe neurodevelopmental disorder (global developmental delay, microcephaly, autism spectrum disorder, brain malformations, hypotonia). Inheritance is autosomal recessive. Drosophila knock‑in models examined ethanol sensitivity but did not reproduce neurodevelopmental phenotypes, offering limited functional support for pathogenicity.\r\n\r\nMultiple different biallelic variants were reported - all were either absent or rare enough for AR gene in gnomAD v4.1 except for c.283C>T(p.Arg95Ter) which has a FAF of 0.4409% \nSources: Literature",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:46:43.478636+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:45:52.611599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4110",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:39:22.180246+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.614",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SEPT2 as ready",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:39:22.171551+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.614",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sept2 has been classified as Green List (High Evidence).",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:35:45.180715+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.614",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene SEPT2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T12:35:44.670396+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.614",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SEPT2 was added\ngene: SEPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SEPT2 were set to 41408595\nPhenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:34:38.867574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4110",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SEPT2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T12:34:05.532883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SEPT2 as ready",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:34:05.523056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sept2 has been classified as Green List (High Evidence).",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:34:01.616674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SEPT2 as Green List (high evidence)",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:34:01.606551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sept2 has been classified as Green List (High Evidence).",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T12:33:47.013049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SEPT2 was added\ngene: SEPT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SEPT2 were set to 41408595\nPhenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related\nReview for gene: SEPT2 was set to GREEN\nAdded comment: 7 individuals from 6 families (5 unrelated) with heterozygous missense SEPTIN2 variants causing a neurodevelopmental disorder. Clinical features included developmental delay/intellectual disability (6/7), hearing loss (4/7), cleft palate (3/7), ptosis (3/7), septal heart defect (2/7), syndactyly (2/7), and ADHD (2/7). \r\n\r\nMost variants were de novo (5 families) except 1 family where the variant was inherited from an affected mother. Functional assays demonstrated dominant‑negative disruption of Septin‑2 homodimerisation and axon initial segment formation. Expression of mutant Septin-2 constructs in neurons leads to the disappearance of canonical hallmarks of the axon initial segment. \nSources: Literature",
"entity_name": "SEPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T11:59:11.209088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4107",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PTPN13: Rating: AMBER; Mode of pathogenicity: None; Publications: 41422331, 29093530; Phenotypes: bone marrow failure syndrome MONDO:0000159, PTPN13-related, Hirschsprung disease MONDO:0018309; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPN13",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:54:38.240463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.613",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene PCBP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T10:54:37.869283+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.613",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: PCBP1 was added\ngene: PCBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PCBP1 were set to 41415500\nPhenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:33.892540+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS3 were changed from {Ischemic stroke, susceptibility to} MIM#601367 to {Ischemic stroke, susceptibility to} MIM#601367; Moyamoya disease, MONDO:0016820",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:33.548646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4107",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: PCBP1 was added\ngene: PCBP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PCBP1 were set to 41415500\nPhenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related\nReview for gene: PCBP1 was set to GREEN\nAdded comment: Below information taken from pre print paper.\r\n\r\nPCBP1 encodes the poly(rC)-binding protein 1, an RNA‑binding protein involved in transcriptional and translational processes and splicing. \r\n\r\nPMID 41415500 reports 13 unrelated individuals with heterozygous de‑novo truncating or missense variants in PCBP1 presenting with a neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder, hypotonia, and variable additional features (seizures 3/13, microcephaly 3/13, ophthalmologic features 6/13).\r\n\r\nAll variants absent from gnomAD v4 and LOF proposed mechanism of disease with a significant paucity of LOF variants in the gene in gnomAD.\r\n\r\nFunctional assays in primary mouse hippocampal neurons transfected with patient variants showed mixed results. RNA‑sequencing from three of the patients showed altered splicing of other genes thought secondary to variants in PCBP1. \nSources: Literature",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:24.295146+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOS3 were set to 24986538; 28084234",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:13.560648+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:05.983389+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS3 as Amber List (moderate evidence)",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:53:05.972663+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:52:49.660347+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene NOS3 from panel Cerebral vascular malformations",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T10:52:37.564373+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM# 621469",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:50:26.074215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM#\t621469",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2026-01-22T10:04:57.864955+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Dystonia - complex to Dystonia and Chorea\nHPO terms changed from Dystonia, HP:0001332 to Dystonia, HP:0001332; Chorea, HP:0002072\nList of related panels changed from Dystonia; HP:0001332 to Dystonia; HP:0001332; Chorea; HP:0002072",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:58:22.032610+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR JPH3_HDL2_CTG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:58:21.839745+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: JPH3_HDL2_CTG was added\nSTR: JPH3_HDL2_CTG was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: JPH3_HDL2_CTG.\nMode of inheritance for STR: JPH3_HDL2_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: JPH3_HDL2_CTG were set to 11558794; 20301701\nPhenotypes for STR: JPH3_HDL2_CTG were set to Huntington disease-like 2 MIM#606438",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2026-01-22T09:57:51.396585+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.327",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HTT_HD_CAG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:57:51.215584+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HTT_HD_CAG was added\nSTR: HTT_HD_CAG was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: HTT_HD_CAG.\nMode of inheritance for STR: HTT_HD_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HTT_HD_CAG were set to 8458085; 20301482; 29325606\nPhenotypes for STR: HTT_HD_CAG were set to Huntington disease MIM#143100",
"entity_name": "HTT_HD_CAG",
"entity_type": "str"
},
{
"created": "2026-01-22T09:57:02.384879+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene VPS11 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:57:02.027810+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS11 was added\ngene: VPS11 was added to Dystonia - complex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS11 were set to 33452836\nPhenotypes for gene: VPS11 were set to Dystonia 32, MIM# 619637; Dystonia, adult-onset",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:56:35.490884+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.325",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TUBB4A from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:56:35.309739+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB4A was added\ngene: TUBB4A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4A were set to 23424103; 23595291; 33084096; 32943487\nPhenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:56:08.794868+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.324",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TOR1A from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:56:08.626447+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TOR1A was added\ngene: TOR1A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOR1A were set to 9288096; 19955557; 18477710; 32243914; 31583275; 31347572\nPhenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:55:51.168069+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.323",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene THAP1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:55:51.003315+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: THAP1 was added\ngene: THAP1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: THAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: THAP1 were set to 21793105; 22377579; 36205328; 21425335; 20211909\nPhenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:55:26.321456+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TH from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:55:26.157000+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407; MONDO:0011551",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:55:03.758949+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.321",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TAF1_XDP_CCCTCT from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:55:03.513953+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TAF1_XDP_CCCTCT was added\nSTR: TAF1_XDP_CCCTCT was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nfounder tags were added to STR: TAF1_XDP_CCCTCT.\nMode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810\nPhenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250",
"entity_name": "TAF1_XDP_CCCTCT",
"entity_type": "str"
},
{
"created": "2026-01-22T09:54:20.558823+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.320",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPR from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:54:20.397615+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPR were set to 11443547; 18502672; 22522443; 16532389; 31777525; 29147684; 28189489\nPhenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:53:57.802173+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC2A1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:53:57.616721+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC2A1 were set to Dystonia 9, MIM# 601042; MONDO:0010983",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:53:21.791377+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.318",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SGCE from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:53:21.623689+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.318",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCE was added\ngene: SGCE was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: SGCE were set to 11528394; 12821748; 16227522\nPhenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:52:56.312192+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.317",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RELN from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:52:56.137277+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RELN was added\ngene: RELN was added to Dystonia - complex. Sources: Expert Review Red,Other\nMode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RELN were set to 32334381; 25648840\nPhenotypes for gene: RELN were set to Myoclonus-dystonia syndrome MONDO:0000903",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:52:34.496224+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.316",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRRT2 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:52:34.332215+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRRT2 was added\ngene: PRRT2 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRRT2 were set to 22101681; 22120146; 22744660; 22399141\nPhenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:52:14.394645+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.315",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRKRA from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:52:14.222206+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKRA was added\ngene: PRKRA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nfounder tags were added to gene: PRKRA.\nMode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKRA were set to 18243799; 25142429; 29279192\nPhenotypes for gene: PRKRA were set to Dystonia 16, MIM# 612067; MONDO:0012789",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:51:48.885854+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PODXL from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:51:48.727370+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PODXL was added\ngene: PODXL was added to Dystonia - complex. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PODXL were set to 26864383\nPhenotypes for gene: PODXL were set to juvenile-onset Parkinson disease",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:51:23.118500+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PNKD from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:51:22.948879+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNKD was added\ngene: PNKD was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PNKD were set to 15262732; 15496428; 15824259; 19124534; 21487022\nPhenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:51:00.341470+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PDE10A from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:51:00.089295+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE10A was added\ngene: PDE10A was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE10A were set to PMID 27058447\nPhenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:50:41.782749+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PARK7 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:50:41.621340+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PARK7 was added\ngene: PARK7 was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PARK7 were set to 29644727\nPhenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset\tMIM#606324",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:50:23.115269+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NIT1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:50:22.914269+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NIT1 was added\ngene: NIT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIT1 were set to 38430071\nPhenotypes for gene: NIT1 were set to Brain small vessel disease 4, MIM# 621313\nPenetrance for gene: NIT1 were set to unknown",
"entity_name": "NIT1",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:49:51.325342+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KMT2B from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:49:50.269435+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2B were set to 27839873; 27992417\nPhenotypes for gene: KMT2B were set to early-onset dystonia; Dystonia 28, childhood-onset 617284; MONDO:0015004",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:49:22.151031+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KCTD17 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:49:21.929323+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCTD17 was added\ngene: KCTD17 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCTD17 were set to 25983243; 30642807; 30579817\nPhenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic MIM#616398",
"entity_name": "KCTD17",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:48:58.660510+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KCNN2 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:48:58.498016+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNN2 was added\ngene: KCNN2 was added to Dystonia - complex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNN2 were set to 32212350; 33242881\nPhenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:48:36.497498+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.306",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KCNMA1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:48:36.326907+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNMA1 was added\ngene: KCNMA1 was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNMA1 were set to 26195193; 15937479; 29356177\nPhenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446\nMode of pathogenicity for gene: KCNMA1 was set to Other",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:48:21.101877+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HPCA from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:48:20.012462+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPCA was added\ngene: HPCA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPCA were set to 25799108; 30991467; 30145809\nPhenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; MONDO:0009141; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features",
"entity_name": "HPCA",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:48:06.388384+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GNAL from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:48:06.205942+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNAL was added\ngene: GNAL was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAL were set to 23222958; 33175450; 32180288\nPhenotypes for gene: GNAL were set to Dystonia 25, MIM# 615073; MONDO:0014033",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:47:34.585458+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.303",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GCH1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:47:34.351688+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GCH1 were set to 7874165; 11113234; 15753436\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230",
"entity_name": "GCH1",
"entity_type": "gene"
}
]
}